WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.13569946A>C | CA383998204 | GRIN2B | c.2243T>G (p.Leu748Arg) n.503T>G c.69+38657T>G (n.69+38657T>G) c.29T>G (p.Leu10Arg) | |
| 12 | g.13569946A>G | CA383998205 | GRIN2B | c.2243T>C (p.Leu748Pro) n.503T>C c.69+38657T>C (n.69+38657T>C) c.29T>C (p.Leu10Pro) | |
| 12 | g.13569946A>T | CA383998206 | GRIN2B | c.2243T>A (p.Leu748Gln) n.503T>A c.69+38657T>A (n.69+38657T>A) c.29T>A (p.Leu10Gln) | |
| 12 | g.13569947G>A | CA478703973 | GRIN2B | c.2242C>T (p.Leu748=) n.502C>T c.69+38656C>T (n.69+38656C>T) c.28C>T (p.Leu10=) | ClinVar |
| 12 | g.13569947G>C | CA383998207 | GRIN2B | c.2242C>G (p.Leu748Val) n.502C>G c.69+38656C>G (n.69+38656C>G) c.28C>G (p.Leu10Val) | |
| 12 | g.13569947G>T | CA383998208 | GRIN2B | c.2242C>A (p.Leu748Met) n.502C>A c.69+38656C>A (n.69+38656C>A) c.28C>A (p.Leu10Met) | |
| 12 | g.13569948C>A | CA383998209 | GRIN2B | c.2241G>T (p.Lys747Asn) n.501G>T c.69+38655G>T (n.69+38655G>T) c.27G>T (p.Lys9Asn) | |
| 12 | g.13569948C= | CA2017440471 | GRIN2B | c.2241G= (p.Lys747=) n.501G= c.69+38655G= (n.69+38655G=) c.27G= (p.Lys9=) | |
| 12 | g.13569948C>G | CA383998210 | GRIN2B | c.2241G>C (p.Lys747Asn) n.501G>C c.69+38655G>C (n.69+38655G>C) c.27G>C (p.Lys9Asn) | |
| 12 | g.13569948C>T | CA478703978 | GRIN2B | c.2241G>A (p.Lys747=) n.501G>A c.69+38655G>A (n.69+38655G>A) c.27G>A (p.Lys9=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.13569949T>A | CA383998211 | GRIN2B | c.2240A>T (p.Lys747Met) n.500A>T c.69+38654A>T (n.69+38654A>T) c.26A>T (p.Lys9Met) | |
| 12 | g.13569949T>C | CA383998212 | GRIN2B | c.2240A>G (p.Lys747Arg) n.500A>G c.69+38654A>G (n.69+38654A>G) c.26A>G (p.Lys9Arg) | |
| 12 | g.13569949T>G | CA383998213 | GRIN2B | c.2240A>C (p.Lys747Thr) n.500A>C c.69+38654A>C (n.69+38654A>C) c.26A>C (p.Lys9Thr) | |
| 12 | g.13569950T>A | CA383998214 | GRIN2B | c.2239A>T (p.Lys747Ter) n.499A>T c.69+38653A>T (n.69+38653A>T) c.25A>T (p.Lys9Ter) | dbSNP |
| 12 | g.13569950T>C | CA383998215 | GRIN2B | c.2239A>G (p.Lys747Glu) n.499A>G c.69+38653A>G (n.69+38653A>G) c.25A>G (p.Lys9Glu) | |
| 12 | g.13569950T>G | CA383998216 | GRIN2B | c.2239A>C (p.Lys747Gln) n.499A>C c.69+38653A>C (n.69+38653A>C) c.25A>C (p.Lys9Gln) | |
| 12 | g.13569950T= | CA2017440472 | GRIN2B | c.2239A= (p.Lys747=) n.499A= c.69+38653A= (n.69+38653A=) c.25A= (p.Lys9=) | |
| 12 | g.13569951G>A | CA233136825 | GRIN2B | c.2238C>T (p.Cys746=) n.498C>T c.69+38652C>T (n.69+38652C>T) c.24C>T (p.Cys8=) | dbSNP COSMIC |
| 12 | g.13569951G>C | CA383998217 | GRIN2B | c.2238C>G (p.Cys746Trp) n.498C>G c.69+38652C>G (n.69+38652C>G) c.24C>G (p.Cys8Trp) | ClinVar dbSNP |
| 12 | g.13569951G= | CA2017440473 | GRIN2B | c.2238C= (p.Cys746=) n.498C= c.69+38652C= (n.69+38652C=) c.24C= (p.Cys8=) | |
| 12 | g.13569951G>T | CA383998218 | GRIN2B | c.2238C>A (p.Cys746Ter) n.498C>A c.69+38652C>A (n.69+38652C>A) c.24C>A (p.Cys8Ter) | dbSNP |
| 12 | g.13569952C>A | CA383998219 | GRIN2B | c.2237G>T (p.Cys746Phe) n.497G>T c.69+38651G>T (n.69+38651G>T) c.23G>T (p.Cys8Phe) | |
| 12 | g.13569952C= | CA2017440474 | GRIN2B | c.2237G= (p.Cys746=) n.497G= c.69+38651G= (n.69+38651G=) c.23G= (p.Cys8=) | |
| 12 | g.13569952C>G | CA383998220 | GRIN2B | c.2237G>C (p.Cys746Ser) n.497G>C c.69+38651G>C (n.69+38651G>C) c.23G>C (p.Cys8Ser) | |
| 12 | g.13569952C>T | CA383998221 | GRIN2B | c.2237G>A (p.Cys746Tyr) n.497G>A c.69+38651G>A (n.69+38651G>A) c.23G>A (p.Cys8Tyr) | ClinVar dbSNP gnomAD v4 |
| 12 | g.13569953A>C | CA383998222 | GRIN2B | c.2236T>G (p.Cys746Gly) n.496T>G c.69+38650T>G (n.69+38650T>G) c.22T>G (p.Cys8Gly) | |
| 12 | g.13569953A>G | CA383998223 | GRIN2B | c.2236T>C (p.Cys746Arg) n.496T>C c.69+38650T>C (n.69+38650T>C) c.22T>C (p.Cys8Arg) | |
| 12 | g.13569953A>T | CA383998224 | GRIN2B | c.2236T>A (p.Cys746Ser) n.496T>A c.69+38650T>A (n.69+38650T>A) c.22T>A (p.Cys8Ser) | ClinVar |
| 12 | g.13569954G>A | CA478703999 | GRIN2B | c.2235C>T (p.Gly745=) n.495C>T c.69+38649C>T (n.69+38649C>T) c.21C>T (p.Gly7=) | |
| 12 | g.13569954G>C | CA478704003 | GRIN2B | c.2235C>G (p.Gly745=) n.495C>G c.69+38649C>G (n.69+38649C>G) c.21C>G (p.Gly7=) | |
| 12 | g.13569954G>T | CA478704001 | GRIN2B | c.2235C>A (p.Gly745=) n.495C>A c.69+38649C>A (n.69+38649C>A) c.21C>A (p.Gly7=) | |
| 12 | g.13569955C>A | CA383998225 | GRIN2B | c.2234G>T (p.Gly745Val) n.494G>T c.69+38648G>T (n.69+38648G>T) c.20G>T (p.Gly7Val) | |
| 12 | g.13569955C>G | CA383998226 | GRIN2B | c.2234G>C (p.Gly745Ala) n.494G>C c.69+38648G>C (n.69+38648G>C) c.20G>C (p.Gly7Ala) | |
| 12 | g.13569955C>T | CA383998227 | GRIN2B | c.2234G>A (p.Gly745Asp) n.494G>A c.69+38648G>A (n.69+38648G>A) c.20G>A (p.Gly7Asp) | |
| 12 | g.13569956C>A | CA383998228 | GRIN2B | c.2233G>T (p.Gly745Cys) n.493G>T c.69+38647G>T (n.69+38647G>T) c.19G>T (p.Gly7Cys) | |
| 12 | g.13569956C>G | CA383998229 | GRIN2B | c.2233G>C (p.Gly745Arg) n.493G>C c.69+38647G>C (n.69+38647G>C) c.19G>C (p.Gly7Arg) | |
| 12 | g.13569956C>T | CA383998230 | GRIN2B | c.2233G>A (p.Gly745Ser) n.493G>A c.69+38647G>A (n.69+38647G>A) c.19G>A (p.Gly7Ser) | |
| 12 | g.13569957T>A | CA383998231 | GRIN2B | c.2232A>T (p.Glu744Asp) n.492A>T c.69+38646A>T (n.69+38646A>T) c.18A>T (p.Glu6Asp) | |
| 12 | g.13569957T>C | CA478704012 | GRIN2B | c.2232A>G (p.Glu744=) n.492A>G c.69+38646A>G (n.69+38646A>G) c.18A>G (p.Glu6=) | |
| 12 | g.13569957T>G | CA383998232 | GRIN2B | c.2232A>C (p.Glu744Asp) n.492A>C c.69+38646A>C (n.69+38646A>C) c.18A>C (p.Glu6Asp) | |
| 12 | g.13569958T>A | CA383998233 | GRIN2B | c.2231A>T (p.Glu744Val) n.491A>T c.69+38645A>T (n.69+38645A>T) c.17A>T (p.Glu6Val) | |
| 12 | g.13569958T>C | CA383998235 | GRIN2B | c.2231A>G (p.Glu744Gly) n.491A>G c.69+38645A>G (n.69+38645A>G) c.17A>G (p.Glu6Gly) | |
| 12 | g.13569958T>G | CA383998234 | GRIN2B | c.2231A>C (p.Glu744Ala) n.491A>C c.69+38645A>C (n.69+38645A>C) c.17A>C (p.Glu6Ala) | |
| 12 | g.13569959C>A | CA383998236 | GRIN2B | c.2230G>T (p.Glu744Ter) n.490G>T c.69+38644G>T (n.69+38644G>T) c.16G>T (p.Glu6Ter) | dbSNP |
| 12 | g.13569959C= | CA2017440475 | GRIN2B | c.2230G= (p.Glu744=) n.490G= c.69+38644G= (n.69+38644G=) c.16G= (p.Glu6=) | |
| 12 | g.13569959C>G | CA383998238 | GRIN2B | c.2230G>C (p.Glu744Gln) n.490G>C c.69+38644G>C (n.69+38644G>C) c.16G>C (p.Glu6Gln) | |
| 12 | g.13569959C>T | CA383998237 | GRIN2B | c.2230G>A (p.Glu744Lys) n.490G>A c.69+38644G>A (n.69+38644G>A) c.16G>A (p.Glu6Lys) | |
| 12 | g.13569960A= | CA2017440476 | GRIN2B | c.2229T= (p.Asp743=) n.489T= c.69+38643T= (n.69+38643T=) c.15T= (p.Asp5=) | |
| 12 | g.13569960A>C | CA383998239 | GRIN2B | c.2229T>G (p.Asp743Glu) n.489T>G c.69+38643T>G (n.69+38643T>G) c.15T>G (p.Asp5Glu) | |
| 12 | g.13569960A>G | CA478704025 | GRIN2B | c.2229T>C (p.Asp743=) n.489T>C c.69+38643T>C (n.69+38643T>C) c.15T>C (p.Asp5=) |